Early onset or syndromic epilepsy

Gene: ARFGEF2

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR periventricular heterotropia with microcephaly. Sheen et al, 2004 - hom mutations detected in affected members of two Turkish families. Banne et al, 2013 - 5 members of a consang Palestinian family with a hom variant. No functional studies. Also a couple of cases with hom variants who also have cardiomyopathy.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periventricular heterotopia with microcephaly, 608097

Publications

• 14647276

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)

Created: 17 Jul 2018, 9:44 a.m.

Green List (high evidence)

Associated with periventricular heterotopia in OMIM, and epilepsy is part of the phenotype

Created: 5 Jul 2018, 2:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periventricular heterotopia with microcephaly 608097